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The preferential expression of genes associated with esophageal malformations in Human embryos. (A) The UMAP coordinates of 180 K human embryos from CS12 to CS16 from the single-cell atlas of Xu et al²⁶. The cells colored in blue, and red belong to the subpopulations of epithelial cells, and fibroblasts which show the most significant preferential expression of EM associated genes among other cell clusters. (B–E) The correspondence between gene expression correlation with disease scores in human and mouse embryos for 20,897 human genes. Each gray circle shows the Pearson correlation between the gene expression in single-cells and the disease scores. The y-axis in all panels show the correlation coefficient for human genes in human embryos at the developmental stage of CS12. We compared the correlation coefficients for human genes with the correlation coefficients of mouse genes at the developmental stage of E3.5 (panel B), E5.5 (panel C), E7.5 (panel D), and E9.5 (panel E) from the atlas of Nowotschin et al.²⁰.
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Understanding the molecular mechanisms of congenital diseases is challenging due to their occurrence within specific developmental stages. Esophageal malformations are examples of such conditions, characterized by abnormalities in the development of esophagus during embryogenesis. These developmental malformations encompass a range of anomalies, in...
Citations
... Esophageal atresia, caused by incomplete embryonic compartmentalization of the foregut commonly occurs with a tracheoesophageal fistula [9]. It is thought-provoking to keep in mind that esophageal malformations are the product of abnormalities during embryogenesis where members of the forkhead-box family of transcription factors, as well as the SRY-box transcription factor SOX2, are preferentially expressed in embryonic fibroblast the former and epithelial subpopulations the latter [10,11]. The Fox family of transcription factor are up-regulated in patients with tracheoesophageal fistulas [12] but transcription factor SOX2 is a vital regulator of stem cell activity in developing human tissues [13] and its mutation has been associated to tracheoesophageal fistula [14]. ...
Purpose: Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are rare anomalies in neonates that must be surgically repaired by esophageal reconstruction with or without ligation of the fistula. Recurrent tracheoesophageal fistula (rTEF) occurs in 3-15% of primary surgical repairs in esophageal atresia; it is associated with recurrent hospital admissions and up to 27% short term mortality. Dependable reparation very often proves difficult by standard surgical techniques. Using oesophageal fully covered self-expandable metal stents in adult patients yields a <50% efficacy and other endoscopic techniques such as occlusion by clips or glue show no better results. A minimally invasive alternative is the use of vascular plug septal occluders. We report the efficacy of endoscopic placement of a cardiac septal occluder (CSO) in a paediatric patient. Clinical case: A 12-year-old female with recurrent (rTEF) and refractory tracheoesophageal fistula (refTEF) was subjected to an refTEF closure procedure via endoscopic placement of a cardiac septal occlusion device. Conclusion: Debate regarding the gold standard of rTEF treatment closure a hot debate but flexible endoscopy is an accepted alternative. This report describes the successful fixing of a refTEF using a cardiac septal occluder. After four weeks follow up, no re-incidence of the tracheoesophageal fistula was detected. The results advocate for the endoscopic closure of refractory tracheoesophageal fistula with cardiac occluders in children thus establishing a promising therapeutical alternative in refTEF in paediatric population patients.
